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MCID: SPH010
MIFTS: 47

Sphingolipidosis

Categories: Rare diseases, Metabolic diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Sphingolipidosis

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MalaCards integrated aliases for Sphingolipidosis:

Name: Sphingolipidosis 12 76 53 15
Sphingolipidoses 12 53 55 44 73

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:1927
ICD10 33 E75.3
MeSH 44 D013106
NCIt 50 C117254
SNOMED-CT 68 238028008 58459009
UMLS 73 C0037899
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Summaries for Sphingolipidosis

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MalaCards based summary : Sphingolipidosis, also known as sphingolipidoses, is related to metachromatic leukodystrophy and gaucher's disease. An important gene associated with Sphingolipidosis is PSAP (Prosaposin), and among its related pathways/superpathways are Metabolism and Lysosome. The drugs Miglustat and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and kidney, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 76 Sphingolipidoses (singular \"sphingolipidosis\") are a class of lipid storage disorders relating to... more...

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Related Diseases for Sphingolipidosis

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Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 32.0 ARSA GALC HEXA PSAP
2 gaucher's disease 31.9 ARSA GBA GBA3 PSAP SCARB2
3 gaucher disease, type ii 30.8 GBA PSAP
4 gaucher disease, type iii 30.8 GBA PSAP
5 infantile krabbe disease 30.6 GALC PSAP
6 metachromatic leukodystrophy, adult form 30.6 ARSA PSAP
7 metachromatic leukodystrophy, late infantile form 30.6 ARSA PSAP
8 metachromatic leukodystrophy, juvenile form 30.6 ARSA PSAP
9 niemann-pick disease type c, severe perinatal form 30.4 NPC1 NPC2
10 niemann-pick disease type c, late infantile neurologic onset 30.4 NPC1 NPC2
11 niemann-pick disease type c, severe early infantile neurologic onset 30.4 NPC1 NPC2
12 niemann-pick disease type c, adult neurologic onset 30.4 NPC1 NPC2
13 niemann-pick disease type c, juvenile neurologic onset 30.4 NPC1 NPC2
14 krabbe disease 30.2 ARSA GALC PSAP
15 gaucher disease, type i 30.1 GBA PSAP SCARB2
16 niemann-pick disease, type c1 30.0 ASAH2 NPC1 NPC2 PSAP SMPD1
17 niemann-pick disease 29.3 GBA NPC1 NPC2 PSAP SMPD1
18 tay-sachs disease 29.2 ARSA CTSA GLB1 HEXA HEXB PSAP
19 fabry disease 11.2
20 sea-blue histiocyte disease 10.9
21 cerebral lipidosis 10.6 GLB1 HEXA
22 acid sphingomyelinase deficiency 10.5 NPC1 SMPD1
23 gangliosidosis gm1 10.4 GLB1 HEXA PSAP
24 internuclear ophthalmoplegia 10.3 GBA HEXA
25 leukodystrophy 10.3 ARSA GALC PSAP
26 occupational dermatitis 10.3 GBA SMPD1
27 mucopolysaccharidosis, type vii 10.3 GLB1 HEXA
28 angiokeratoma 10.2 CTSA GLA
29 mannosidosis, alpha b, lysosomal 10.1 CTSA HEXA
30 glycine n-methyltransferase deficiency 10.1 ADPRH NPC2
31 galactosialidosis 10.1 CTSA GLB1
32 glycoproteinosis 10.0 CTSA GLB1 PSAP
33 mucopolysaccharidosis iv 10.0 CTSA GLB1
34 lymphatic system disease 10.0 NPC1 NPC2 SMPD1
35 mucolipidosis ii alpha/beta 10.0 ADPRH PSAP SMPD1
36 hand, foot and mouth disease 9.9 GBA SCARB2
37 dementia 9.9 ARSA GBA NPC1 NPC2
38 fucosidosis 9.8 CTSA HEXA
39 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.8
40 niemann-pick disease, type a 9.8
41 leukodystrophy, hypomyelinating, 3 9.8
42 pelizaeus-merzbacher disease 9.8
43 leukoencephalopathy with vanishing white matter 9.8
44 niemann-pick disease, type b 9.8
45 gaucher disease, perinatal lethal 9.8
46 leukodystrophy, hypomyelinating, 2 9.8
47 gaucher disease, atypical, due to saposin c deficiency 9.8
48 leukodystrophy, hypomyelinating, 4 9.8
49 leukodystrophy, hypomyelinating, 6 9.8
50 leukodystrophy, hypomyelinating, 9 9.8

Graphical network of the top 20 diseases related to Sphingolipidosis:



Diseases related to Sphingolipidosis
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Symptoms & Phenotypes for Sphingolipidosis

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MGI Mouse Phenotypes related to Sphingolipidosis:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.38 CTSA GLA GALC GLB1 ARSA GBA
2 growth/size/body region MP:0005378 10.34 CTSA GLA GALC GBA HEXA NPC1
3 homeostasis/metabolism MP:0005376 10.34 GLA GALC GLB1 ARSA GBA ASAH2
4 cellular MP:0005384 10.25 GBA CTSA GLA GALC NPC1 HEXB
5 immune system MP:0005387 10.25 CTSA GLA GALC ADPRH ARSA GBA
6 hematopoietic system MP:0005397 10.23 GBA CTSA GALC ARSA NPC1 HEXB
7 cardiovascular system MP:0005385 10.18 GBA CTSA GLA GALC NPC1 MCOLN1
8 mortality/aging MP:0010768 10.17 CTSA GLA GALC GBA HEXA NPC1
9 liver/biliary system MP:0005370 10.11 GLA GALC GLB1 GBA CTSA NPC1
10 nervous system MP:0003631 10.07 GLA GALC ARSA GBA HEXA NPC1
11 hearing/vestibular/ear MP:0005377 9.88 ARSA HEXA HEXB PSAP SCARB2
12 renal/urinary system MP:0005367 9.85 CTSA GLA GALC HEXA HEXB GLB1
13 respiratory system MP:0005388 9.5 GBA CTSA NPC1 PSAP SMPD1 RAB8A
14 vision/eye MP:0005391 9.23 GLA GALC HEXA NPC1 HEXB MCOLN1
Sources

Drugs & Therapeutics for Sphingolipidosis

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Drugs for Sphingolipidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 170)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 72599-27-0 51634
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
3
1-Deoxynojirimycin Experimental Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19130-96-2 1374
4 Bone Density Conservation Agents Phase 4,Phase 2,Not Applicable
5 Micronutrients Phase 4,Phase 2,Not Applicable
6 Trace Elements Phase 4,Phase 2,Not Applicable
7 Vitamins Phase 4,Phase 2,Not Applicable
8 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15
Eliglustat Approved Phase 3,Phase 2,Phase 1 491833-29-5 23652731
16
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337
17
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3 55-98-1 2478
18
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
19
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
20
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
21
Altretamine Approved Phase 3 645-05-6 2123
22
Dimethyl sulfoxide Approved, Vet_approved Phase 3 67-68-5 679
23
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
24 tannic acid Approved, Nutraceutical Phase 3,Phase 2
25 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
26 Alkylating Agents Phase 2, Phase 3
27 Antilymphocyte Serum Phase 2, Phase 3
28 Antineoplastic Agents, Alkylating Phase 2, Phase 3
29 Antirheumatic Agents Phase 2, Phase 3
30 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
31 Methylprednisolone acetate Phase 2, Phase 3
32 Methylprednisolone Hemisuccinate Phase 2, Phase 3
33 Prednisolone acetate Phase 2, Phase 3
34 Prednisolone hemisuccinate Phase 2, Phase 3
35 Prednisolone phosphate Phase 2, Phase 3
36
Ethylene Phase 3 74-85-1 6325
37
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
38
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
39
alemtuzumab Approved, Investigational Phase 2 216503-57-0
40
Mesna Approved, Investigational Phase 2 3375-50-6 598
41
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
42
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
43
Mycophenolic acid Approved Phase 2 24280-93-1 446541
44
Pyrimethamine Approved, Investigational, Vet_approved Phase 1, Phase 2 58-14-0 4993
45
Coal tar Approved Phase 2 8007-45-2
46
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
47
Acetylcysteine Approved, Investigational Phase 1, Phase 2,Phase 2 616-91-1 12035
48
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
49
Hydroxyurea Approved Phase 2 127-07-1 3657
50
Melphalan Approved Phase 2 148-82-3 4053 460612

Interventional clinical trials:

(show top 50) (show all 294)
# Name Status NCT ID Phase Drugs
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
2 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
3 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
4 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
5 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4 Cerezyme (imiglucerase for injection)
6 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
7 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
8 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
9 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
10 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed NCT00074984 Phase 4
11 Phase 4 Study to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 Years Recruiting NCT02574286 Phase 4 Velaglucerase alfa
12 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
13 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
14 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Not yet recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
15 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
16 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4 Fabrazyme (agalsidase beta)
17 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
18 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
19 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
20 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3 migalastat HCl 150mg
21 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
22 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
23 A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease Completed NCT01298141 Phase 3
24 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT01218659 Phase 3 migalastat hydrochloride
25 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
26 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) Completed NCT01074944 Phase 3 Eliglustat tartrate
27 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3 Eliglustat tartrate;Imiglucerase
28 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
29 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
30 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
31 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
32 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
33 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
34 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
35 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
36 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
37 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
38 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
39 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease Completed NCT00376168 Phase 3 Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)
40 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 miglustat
41 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
42 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00074971 Phase 3 Fabrazyme (agalsidase beta)
43 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
44 Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 Recruiting NCT03485677 Phase 3 Eliglustat GZ385660;Imiglucerase GZ437843
45 Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease Recruiting NCT03425539 Phase 3 Lucerastat;Placebo
46 Study of the Safety, Efficacy, & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients Recruiting NCT03180840 Phase 3
47 Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) Recruiting NCT03018730 Phase 3
48 Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function Recruiting NCT02795676 Phase 3
49 A Safety and Efficacy Study of Cryopreserved GSK2696274 for Treatment of Metachromatic Leukodystrophy (MLD) Recruiting NCT03392987 Phase 3 GSK2696274
50 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665

Search NIH Clinical Center for Sphingolipidosis

Cochrane evidence based reviews: sphingolipidoses

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Genetic Tests for Sphingolipidosis

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Anatomical Context for Sphingolipidosis

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MalaCards organs/tissues related to Sphingolipidosis:

41
Bone, Liver, Kidney, Bone Marrow, Brain, Monocytes, T Cells
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Publications for Sphingolipidosis

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Articles related to Sphingolipidosis:

(show all 13)
# Title Authors Year
1
Visualization of the heterogeneous membrane distribution of sphingomyelin associated with cytokinesis, cell polarity, and sphingolipidosis. ( 25389132 )
2014
2
Sustained activation of sphingomyelin synthase by 2-hydroxyoleic acid induces sphingolipidosis in tumor cells. ( 23471028 )
2013
3
Arsenic induces oxidative stress, sphingolipidosis, depletes proteins and some antioxidants in various regions of rat brain. ( 18604117 )
2008
4
Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells. ( 17050734 )
2007
5
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients. ( 11934514 )
2002
6
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. ( 11309366 )
2001
7
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients. ( 10491988 )
1999
8
Feline sphingolipidosis resembling Niemann-Pick disease type C. ( 2127982 )
1990
9
Isolation and characterization of cytoplasmic inclusion bodies from the grey matter of the formalin-fixed brain from new case of generalized sphingolipidosis with failure of myelination. ( 194074 )
1977
10
Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis. ( 803227 )
1975
11
Reversal of an inborn sphingolipidosis (Fabry's disease) by kidney transplantation. ( 4565790 )
1972
12
A sphingolipidosis registry. ( 5688476 )
1968
13
FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. ( 14081947 )
1963
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Variations for Sphingolipidosis

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Expression for Sphingolipidosis

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Search GEO for disease gene expression data for Sphingolipidosis.
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Pathways for Sphingolipidosis

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Pathways related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.73 ARSA ASAH2 CTSA GALC GBA GBA3
2
Lysosome 37
11.89 ARSA CTSA GALC GBA GLA GLB1
3
Sphingolipid metabolism 66 37 1
Show member pathways
 11.8 ARSA ASAH2 CTSA GALC GBA GBA3
4
Galactose metabolism 37 22
Show member pathways
 11.74 GBA3 GLA GLB1
5
Keratan sulfate/keratin metabolism 66
Show member pathways
 11.55 GLB1 HEXA HEXB
6
Globo Sphingolipid Metabolism 1
Show member pathways
 11.15 GLA HEXA HEXB
7
Glycosphingolipid biosynthesis - ganglio series 37
Show member pathways
 10.99 GLB1 HEXA HEXB
8
Glycosaminoglycan degradation 37
Show member pathways
 10.8 GLB1 HEXA HEXB
9
Other glycan degradation 37
10.71 GBA GLB1 HEXA HEXB
10
Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) 22
Show member pathways
 10.6 NPC1 NPC2
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GO Terms for Sphingolipidosis

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Cellular components related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.83 ARSA MCOLN1 NPC1 RAB8A SMPD1
2 lysosomal membrane GO:0005765 9.8 CTSA GBA MCOLN1 NPC1 PSAP SCARB2
3 lysosome GO:0005764 9.8 ARSA CTSA GALC GBA GLA GLB1
4 late endosome membrane GO:0031902 9.63 MCOLN1 NPC1 SCARB2
5 azurophil granule lumen GO:0035578 9.63 ARSA CTSA GLA GLB1 HEXB NPC2
6 azurophil granule GO:0042582 9.4 HEXA HEXB
7 lysosomal lumen GO:0043202 9.4 ARSA CTSA GALC GBA GLA GLB1
8 extracellular exosome GO:0070062 10.1 ARSA CTSA GALC GBA GLA GLB1
9 extracellular region GO:0005576 10.07 ARSA ASAH2 CTSA GLA GLB1 HEXB
10 extracellular space GO:0005615 10.02 ARSA GBA GLB1 HEXB NPC2 PSAP

Biological processes related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.88 ASAH2 GALC GBA NPC1 NPC2 PSAP
2 neutrophil degranulation GO:0043312 9.8 ARSA CTSA GLA GLB1 HEXB NPC2
3 carbohydrate metabolic process GO:0005975 9.77 GBA3 GLA GLB1 HEXA HEXB
4 cholesterol transport GO:0030301 9.58 NPC1 NPC2
5 ceramide biosynthetic process GO:0046513 9.58 GBA SMPD1
6 cholesterol efflux GO:0033344 9.57 NPC1 NPC2
7 low-density lipoprotein particle clearance GO:0034383 9.56 NPC1 NPC2
8 metabolic process GO:0008152 9.56 ARSA GALC GBA GLA GLB1 HEXA
9 positive regulation of protein dephosphorylation GO:0035307 9.55 GBA SMPD1
10 hyaluronan catabolic process GO:0030214 9.54 HEXA HEXB
11 chondroitin sulfate catabolic process GO:0030207 9.52 HEXA HEXB
12 response to pH GO:0009268 9.51 ARSA GBA
13 keratan sulfate catabolic process GO:0042340 9.5 GLB1 HEXA HEXB
14 sphingosine biosynthetic process GO:0046512 9.49 ASAH2 GBA
15 glycoside catabolic process GO:0016139 9.48 GBA3 GLA
16 glycosylceramide catabolic process GO:0046477 9.46 GBA3 GLA
17 sphingolipid metabolic process GO:0006665 9.46 ASAH2 GALC GBA PSAP
18 termination of signal transduction GO:0023021 9.43 GBA SMPD1
19 glycosphingolipid metabolic process GO:0006687 9.36 ARSA CTSA GALC GBA GBA3 GLA

Molecular functions related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 ADPRH ARSA ASAH2 CTSA GALC GBA
2 exo-alpha-sialidase activity GO:0004308 9.46 CTSA GLB1
3 beta-N-acetylhexosaminidase activity GO:0004563 9.43 HEXA HEXB
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 GLA GLB1 HEXB
5 galactoside binding GO:0016936 9.4 GLA GLB1
6 glucosylceramidase activity GO:0004348 9.37 GBA GBA3
7 beta-galactosidase activity GO:0004565 9.33 GBA3 GLB1 PSAP
8 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.32 HEXA HEXB
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.17 GALC GBA GLA GLB1 HEXA HEXB
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Sources for Sphingolipidosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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